How is dyskeratosis congenita caused?

Causes. In about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT, TERC, DKC1, or TINF2 gene. These genes provide instructions for making proteins that help maintain structures known as telomeres , which are found at the ends of chromosomes.

What is telomere disease?

Telomere biology disorders (TBD) are a heterogeneous group of diseases arising from germline mutations affecting genes involved in telomere maintenance. Telomeres are DNA-protein structures at chromosome ends that maintain chromosome stability; their length affects cell replicative potential and senescence.

What happens if you have no telomeres?

However, because the ends are protected by telomeres, the only part of the chromosome that is lost, is the telomere, and the DNA is left undamaged. Without telomeres, important DNA would be lost every time a cell divides (usually about 50 to 70 times). This would eventually lead to the loss of entire genes?.

What are the medical consequences of elongated or shortened telomeres?

Telomeres shorten with age and progressive telomere shortening leads to senescence and/or apoptosis. Shorter telomeres have also been implicated in genomic instability and oncogenesis. Older people with shorter telomeres have three and eight times increased risk to die from heart and infectious diseases, respectively.

What are the common early signs of aplastic anemia?


  • Fatigue.
  • Shortness of breath.
  • Rapid or irregular heart rate.
  • Pale skin.
  • Frequent or prolonged infections.
  • Unexplained or easy bruising.
  • Nosebleeds and bleeding gums.
  • Prolonged bleeding from cuts.

Who is at risk for aplastic anemia?

People of all ages can develop aplastic anemia. However, it’s most common in adolescents, young adults, and the elderly. Men and women are equally likely to have it. The disorder is two to three times more common in Asian countries.